Canonical Allele Identifier: CA457231187
Gene: CFTR HGNC NCBI

Linked Data

MyVariant Identifiers: chr7:g.117267620A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117627566A>G , CM000669.2:g.117627566A>G GRCh38
NC_000007.13:g.117267620A>G , CM000669.1:g.117267620A>G GRCh37
NC_000007.12:g.117054856A>G NCBI36
NG_016465.4:g.166783A>G , LRG_663:g.166783A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000647720.2:c.3513A>G ENSP00000497673.2:p.Thr1171=
ENST00000647978.2:c.*3227A>G ENSP00000497658.1:n.*3227A>G
ENST00000649781.2:c.3330A>G ENSP00000497203.1:p.Thr1110=
ENST00000685018.2:c.3513A>G ENSP00000510194.2:p.Thr1171=
ENST00000687278.2:c.*166A>G ENSP00000509593.2:n.*166A>G
ENST00000699585.1:c.3513A>G ENSP00000514456.1:p.Thr1171=
ENST00000699598.1:c.3513A>G ENSP00000514467.1:p.Thr1171=
ENST00000699599.1:c.3513A>G ENSP00000514468.1:p.Thr1171=
ENST00000699600.1:c.*174A>G ENSP00000514469.1:n.*174A>G
ENST00000699601.1:c.*1888A>G ENSP00000514470.1:n.*1888A>G
ENST00000699602.1:c.3507A>G ENSP00000514471.1:p.Thr1169=
ENST00000699604.1:c.*3337A>G ENSP00000514472.1:n.*3337A>G
ENST00000699605.1:c.3087A>G ENSP00000514473.1:p.Thr1029=
ENST00000685018.1:c.261A>G ENSP00000510194.1:p.Thr87=
ENST00000687278.1:c.1300A>G ENSP00000509593.1:n.1300A>G
ENST00000689011.1:c.95A>G
ENST00000003084.11:c.3513A>G MANE Select ENSP00000003084.6:p.Thr1171=
ENST00000647720.1:c.1163A>G
ENST00000648260.1:c.2295A>G ENSP00000497957.1:p.Thr765=
ENST00000649406.1:c.3330A>G ENSP00000497965.1:p.Thr1110=
ENST00000649781.1:c.3330A>G ENSP00000497203.1:p.Thr1110=
ENST00000003084.10:c.3513A>G ENSP00000003084.6:p.Thr1171=
ENST00000426809.5:c.3423A>G ENSP00000389119.1:p.Thr1141=
ENST00000468795.1:c.338A>G
NM_000492.3:c.3513A>G , LRG_663t1:c.3513A>G NP_000483.3:p.Thr1171=
XM_011515751.1:c.3603A>G XP_011514053.1:p.Thr1201=
XM_011515752.1:c.3603A>G XP_011514054.1:p.Thr1201=
XM_011515753.1:c.3270A>G XP_011514055.1:p.Thr1090=
XM_011515754.1:c.3270A>G XP_011514056.1:p.Thr1090=
NM_000492.4:c.3513A>G MANE Select NP_000483.3:p.Thr1171=